Mutagenetix > Incidental Mutation

Incidental Mutation 'R4917:Slc24a4'

378321

Institutional Source

Beutler Lab

Gene Symbol

Slc24a4

Ensembl Gene

ENSMUSG00000041771

Gene Name

solute carrier family 24 (sodium/potassium/calcium exchanger), member 4

Synonyms

NCKX4, A930002M03Rik

MMRRC Submission

042519-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4917 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102094992-102233350 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 102231203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079020] [ENSMUST00000159329]

AlphaFold

Q8CGQ8

Predicted Effect

probably null
Transcript: ENSMUST00000079020

SMART Domains

Protein: ENSMUSP00000078030
Gene: ENSMUSG00000041771

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Na_Ca_ex	86	229	2.4e-31	PFAM
low complexity region	367	388	N/A	INTRINSIC
Pfam:Na_Ca_ex	435	587	2.4e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159329
AA Change: V554E

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124513
Gene: ENSMUSG00000041771
AA Change: V554E

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:Na_Ca_ex	113	245	1e-32	PFAM
low complexity region	365	386	N/A	INTRINSIC
Pfam:Na_Ca_ex	443	562	1.4e-21	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000161325

SMART Domains

Protein: ENSMUSP00000125012
Gene: ENSMUSG00000041771

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:Na_Ca_ex	103	246	1.3e-31	PFAM
low complexity region	365	386	N/A	INTRINSIC
Pfam:Na_Ca_ex	433	585	1.3e-30	PFAM

Meta Mutation Damage Score

0.9489

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (111/114)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired olfactory response and reduced weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,658,996 (GRCm39)	V2783I	probably benign	Het
Ago4	A	C	4: 126,400,635 (GRCm39)	C693G	probably damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Arfgef3	T	A	10: 18,492,638 (GRCm39)	I1258F	probably damaging	Het
Arhgef40	A	G	14: 52,227,556 (GRCm39)	E434G	probably damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bdp1	A	T	13: 100,191,713 (GRCm39)	V1422E	probably damaging	Het
Bfsp1	C	T	2: 143,669,391 (GRCm39)	R396Q	probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,029,302 (GRCm39)		probably null	Het
Casp8	T	C	1: 58,866,377 (GRCm39)	F126S	probably damaging	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cds2	A	G	2: 132,140,398 (GRCm39)	T182A	probably damaging	Het
Cfap157	C	T	2: 32,669,965 (GRCm39)	R206H	probably benign	Het
Col7a1	G	A	9: 108,795,532 (GRCm39)	G1529E	unknown	Het
Crybg3	A	G	16: 59,350,782 (GRCm39)	F2567L	probably benign	Het
Cyp2e1	T	C	7: 140,354,527 (GRCm39)	S393P	possibly damaging	Het
D5Ertd579e	A	G	5: 36,773,160 (GRCm39)	Y412H	probably damaging	Het
Dclk2	A	T	3: 86,732,049 (GRCm39)		probably null	Het
Ddx50	A	T	10: 62,463,450 (GRCm39)	C414*	probably null	Het
Dip2c	T	A	13: 9,671,905 (GRCm39)		probably null	Het
Dmtn	G	T	14: 70,843,159 (GRCm39)	P283Q	probably damaging	Het
Dspp	C	A	5: 104,325,789 (GRCm39)	D717E	unknown	Het
Efcab11	T	C	12: 99,685,321 (GRCm39)	D151G	probably damaging	Het
Egfem1	T	C	3: 29,206,042 (GRCm39)	V93A	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Erlec1	A	G	11: 30,884,710 (GRCm39)	Y448H	possibly damaging	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fn1	A	T	1: 71,634,968 (GRCm39)		probably null	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
Gfra1	A	T	19: 58,255,522 (GRCm39)	S308R	probably damaging	Het
Gm10764	A	G	10: 87,126,579 (GRCm39)		noncoding transcript	Het
Gm5958	C	A	14: 100,073,189 (GRCm39)		noncoding transcript	Het
Gm6788	C	T	19: 28,740,664 (GRCm39)		noncoding transcript	Het
Gsdmd	A	G	15: 75,736,241 (GRCm39)	I123M	probably benign	Het
H2bc13	A	T	13: 21,900,189 (GRCm39)	V42E	probably damaging	Het
Hsf4	A	G	8: 105,999,367 (GRCm39)	E235G	probably benign	Het
Ighv1-83	T	C	12: 115,927,580 (GRCm39)	I57V	probably benign	Het
Inhca	A	C	9: 103,129,054 (GRCm39)	Y235*	probably null	Het
Inpp5f	A	T	7: 128,286,840 (GRCm39)	D573V	probably damaging	Het
Kcnj1	T	A	9: 32,308,056 (GRCm39)	L160Q	probably damaging	Het
Kcnmb3	A	T	3: 32,526,653 (GRCm39)	C179*	probably null	Het
Lrig1	A	G	6: 94,586,700 (GRCm39)	F659L	probably damaging	Het
Lrrc3	T	C	10: 77,737,253 (GRCm39)	D61G	probably benign	Het
Marchf4	T	G	1: 72,467,938 (GRCm39)	S365R	probably benign	Het
Mccc1	A	G	3: 36,051,703 (GRCm39)	L32S	probably benign	Het
Mei4	A	G	9: 81,772,216 (GRCm39)	T10A	probably benign	Het
Meis1	T	C	11: 18,959,222 (GRCm39)		probably benign	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mmp11	C	T	10: 75,761,419 (GRCm39)	A31T	probably damaging	Het
Mrps28	A	G	3: 8,947,614 (GRCm39)		probably benign	Het
Mthfsl	A	C	9: 88,597,550 (GRCm39)	L67V	probably damaging	Het
Ncaph2	A	G	15: 89,244,574 (GRCm39)	I11V	probably damaging	Het
Ncdn	G	A	4: 126,643,731 (GRCm39)	L364F	possibly damaging	Het
Nfat5	T	A	8: 108,051,284 (GRCm39)	D47E	probably damaging	Het
Or51g2	A	T	7: 102,622,614 (GRCm39)	I195N	possibly damaging	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Or5bw2	C	T	7: 6,573,643 (GRCm39)	L218F	possibly damaging	Het
Pcdhb3	A	T	18: 37,435,452 (GRCm39)	I473F	probably damaging	Het
Pcdhgb8	A	T	18: 37,897,191 (GRCm39)	N754Y	probably damaging	Het
Pgbd5	C	A	8: 125,097,305 (GRCm39)	K408N	probably benign	Het
Pnisr	A	G	4: 21,859,330 (GRCm39)		probably benign	Het
Poldip3	A	T	15: 83,016,776 (GRCm39)		probably null	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Psmc3	A	G	2: 90,896,317 (GRCm39)		probably benign	Het
Rab3gap1	T	A	1: 127,816,914 (GRCm39)	W58R	possibly damaging	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Rhot1	A	G	11: 80,100,027 (GRCm39)		probably benign	Het
Rsf1	T	C	7: 97,311,612 (GRCm39)	S781P	probably damaging	Het
Rtraf	T	C	14: 19,873,784 (GRCm39)	K5R	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr2	A	G	13: 11,609,872 (GRCm39)	V753A	probably damaging	Het
Ryr3	T	C	2: 112,661,530 (GRCm39)	H1820R	probably damaging	Het
Schip1	A	T	3: 68,315,818 (GRCm39)		probably benign	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Selp	A	C	1: 163,972,475 (GRCm39)	T705P	probably damaging	Het
Sh3rf3	A	T	10: 58,842,925 (GRCm39)	D297V	probably damaging	Het
Slc2a9	C	A	5: 38,574,603 (GRCm39)	L224F	probably benign	Het
Slc35e2	C	A	4: 155,700,693 (GRCm39)	P272Q	probably damaging	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Syne1	C	T	10: 5,007,909 (GRCm39)	C7932Y	probably damaging	Het
Tc2n	A	G	12: 101,631,954 (GRCm39)	L301P	probably damaging	Het
Tchhl1	A	G	3: 93,377,623 (GRCm39)	D109G	possibly damaging	Het
Thoc7	T	C	14: 13,953,154 (GRCm38)	I83V	probably damaging	Het
Tm4sf1	C	T	3: 57,200,448 (GRCm39)	G85S	probably damaging	Het
Tmem63a	T	A	1: 180,794,086 (GRCm39)	I541N	probably benign	Het
Tmpo	A	G	10: 90,985,411 (GRCm39)	V357A	probably damaging	Het
Unc80	T	C	1: 66,685,709 (GRCm39)	Y2278H	possibly damaging	Het
Vmn1r26	A	G	6: 57,985,808 (GRCm39)	F127S	probably damaging	Het
Vmn2r8	A	T	5: 108,945,264 (GRCm39)	M781K	probably damaging	Het
Vps36	T	G	8: 22,708,280 (GRCm39)	M348R	possibly damaging	Het
Vps45	T	C	3: 95,926,943 (GRCm39)	T535A	probably damaging	Het

Other mutations in Slc24a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Slc24a4	APN	12	102,189,894 (GRCm39)	missense	probably benign	0.09
IGL01724:Slc24a4	APN	12	102,185,219 (GRCm39)	missense	possibly damaging	0.78
IGL01767:Slc24a4	APN	12	102,189,946 (GRCm39)	splice site	probably benign
IGL01814:Slc24a4	APN	12	102,220,877 (GRCm39)	missense	probably benign	0.00
IGL02047:Slc24a4	APN	12	102,220,882 (GRCm39)	missense	probably damaging	1.00
IGL02449:Slc24a4	APN	12	102,193,341 (GRCm39)	missense	probably benign	0.00
IGL02632:Slc24a4	APN	12	102,200,941 (GRCm39)	missense	probably benign	0.15
IGL03251:Slc24a4	APN	12	102,189,084 (GRCm39)	missense	probably damaging	0.98
spindly	UTSW	12	102,231,203 (GRCm39)	critical splice donor site	probably null
R0207:Slc24a4	UTSW	12	102,195,210 (GRCm39)	critical splice donor site	probably null
R0284:Slc24a4	UTSW	12	102,226,740 (GRCm39)	missense	probably damaging	1.00
R0506:Slc24a4	UTSW	12	102,097,882 (GRCm39)	critical splice donor site	probably null
R1903:Slc24a4	UTSW	12	102,097,876 (GRCm39)	missense	probably benign	0.00
R2004:Slc24a4	UTSW	12	102,180,166 (GRCm39)	missense	probably damaging	1.00
R2126:Slc24a4	UTSW	12	102,189,018 (GRCm39)	missense	probably damaging	1.00
R2518:Slc24a4	UTSW	12	102,188,310 (GRCm39)	missense	probably benign	0.02
R3498:Slc24a4	UTSW	12	102,200,951 (GRCm39)	missense	probably benign
R3620:Slc24a4	UTSW	12	102,185,222 (GRCm39)	missense	probably damaging	1.00
R3621:Slc24a4	UTSW	12	102,185,222 (GRCm39)	missense	probably damaging	1.00
R5028:Slc24a4	UTSW	12	102,230,629 (GRCm39)	missense	probably damaging	1.00
R5886:Slc24a4	UTSW	12	102,226,674 (GRCm39)	missense	probably damaging	1.00
R5914:Slc24a4	UTSW	12	102,201,049 (GRCm39)	missense	probably damaging	1.00
R6257:Slc24a4	UTSW	12	102,220,769 (GRCm39)	missense	probably benign	0.00
R6305:Slc24a4	UTSW	12	102,188,360 (GRCm39)	missense	possibly damaging	0.84
R6313:Slc24a4	UTSW	12	102,220,769 (GRCm39)	missense	probably benign	0.00
R6734:Slc24a4	UTSW	12	102,185,259 (GRCm39)	missense	probably damaging	1.00
R7378:Slc24a4	UTSW	12	102,205,435 (GRCm39)	missense	probably benign	0.06
R7419:Slc24a4	UTSW	12	102,193,350 (GRCm39)	critical splice donor site	probably null
R7529:Slc24a4	UTSW	12	102,230,707 (GRCm39)	missense	probably benign	0.01
R7715:Slc24a4	UTSW	12	102,185,219 (GRCm39)	missense	possibly damaging	0.89
R7781:Slc24a4	UTSW	12	102,201,112 (GRCm39)	critical splice donor site	probably null
R8258:Slc24a4	UTSW	12	102,220,928 (GRCm39)	missense	probably damaging	1.00
R8259:Slc24a4	UTSW	12	102,220,928 (GRCm39)	missense	probably damaging	1.00
R8766:Slc24a4	UTSW	12	102,196,711 (GRCm39)	missense	probably benign	0.00
R8811:Slc24a4	UTSW	12	102,180,133 (GRCm39)	missense	probably damaging	1.00
R9229:Slc24a4	UTSW	12	102,200,983 (GRCm39)	missense	possibly damaging	0.79
R9339:Slc24a4	UTSW	12	102,230,638 (GRCm39)	missense	probably damaging	1.00
R9599:Slc24a4	UTSW	12	102,097,779 (GRCm39)	missense	probably benign	0.10
R9680:Slc24a4	UTSW	12	102,193,334 (GRCm39)	missense	possibly damaging	0.95
Z1176:Slc24a4	UTSW	12	102,205,497 (GRCm39)	missense	probably benign	0.01
Z1176:Slc24a4	UTSW	12	102,195,157 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc24a4	UTSW	12	102,226,679 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGCTCCCCATTTGTCATAAGG -3'
(R):5'- CTCAGGATAAAGTACCACAGCG -3'

Sequencing Primer
(F):5'- GTCATAAGGCTCTGACTATCCTG -3'
(R):5'- ACAGCGGTTGCAGTTGCTC -3'

Posted On

2016-04-15